STRs in panel
Prev Next
Regions in panel
Prev Next

Familial hypoparathyroidism

Gene: AIRE

Green List (high evidence)

AIRE (autoimmune regulator)
EnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 13 panels

1 review

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

AD inheritance has been reported in a single family (OMIM)

p.G228W has been shown to have a dominant-negative effect by binding to WT AIRE (OMIM)
Created: 3 Mar 2020, 12:34 a.m. | Last Modified: 3 Mar 2020, 12:34 a.m.
Panel Version: 0.1590

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia

Mode of pathogenicity
Other

History Filter Activity

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aire has been classified as Green List (High Evidence).

19 Jul 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: AIRE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aire has been classified as Green List (High Evidence).

19 Jul 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AIRE was added gene: AIRE was added to Familial hypoparathyroidism. Sources: NHS GMS Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to Autoimmune polyendocrine syndrome type 1 MONDO:0009411 Review for gene: AIRE was set to GREEN